What is Cystic Fibrosis? | Causes, Symptoms, Diagnosis, and Precautions

Our body cells are functional in so many ways; a halt in one of its functioning can cause major dysfunction. Cystic fibrosis is on such genetic dysfunction that disturbs the function of cells that produce digestive enzymes, mucus, and sweat. Cystic fibrosis occurs due to mutation in the cystic fibrosis gene on chromosome 7.

A protein known as the cystic fibrosis transmembrane regulator (CFTR) get encoded by the cystic fibrosis, this mutated CFTR protein disrupts chloride channels on the cells. This disease mostly affects the vital organs like lungs, liver, intestines, pancreas, sex organs and sinuses.

What is Cystic fibrosis?

Cystic fibrosis is a rare genetic condition that can be life-threatening. Due to the advance in medical science, medical equipment and procedure, people with cystic fibrosis can live longer than before. In India, less than 1 million cases of cystic fibrosis are detected per year.

Cystic fibrosis affects the mechanism of the cells that are responsible for producing digestive juices, sweat, and mucus. Generally, a thin and slippery fluid is produced by these cells but a person with cystic fibrosis, the fluid secreted is thick and sticky.

The purpose of these fluids is to act as a lubricant but in cystic fibrosis, they create a blockage in the tubes, passageway of the pancreas and lungs. The blockage results in severe lung infections that in the long run prove to be crucial for the lungs.

At present people with cystic fibrosis can perform their day to day activities easily and carry a high chance to live up to 40 to 50 years.
Years before (decade) such patients were not able to live for long as the lungs give up functioning at an early stage in childhood and diagnosis at an early stage was not possible as it is possible now in infants and unborn babies.

Main causes of Cystic fibrosis

Cystic fibrosis can last for a lifetime or if one gets lucky enough it stays in the body only for a few years. Defect in a gene called CFTR (cystic fibrosis transmembrane conductance regulator) causes cystic fibrosis.
This gene regulates the flow of liquids, salt ratio out of the cells. When CFTR does not function properly, a sticky mucus substance starts to build up in the body.

If either of the parents or any member from the family carries this mutated copy of the gene, it is very likely to get inherited or passed on to the offspring.

It has been reported that 90% of the cases registered have one copy (at least) of the F508del mutation; if a person carries one copy of this mutated gene it means that he/she is a carrier of the defect but they wouldn’t be affected. Such people are carriers and have higher chances of passing this disease to its offspring.
Every child is known to inherit two CFTR genes- one from the father and one from the mother. An infant who inherits a defect gene from both the parent will suffer from cystic fibrosis.

Signs & Symptoms of Cystic fibrosis

Signs & Symptoms of Cystic fibrosis
Signs & Symptoms of Cystic fibrosis

The sticky and thick mucus produced in a cystic fibrosis condition blocks the passage of the tubes which carry air in and out of the lungs. When a person is suffering from this disease he/she can show signs and symptoms like-

  • Wheezing sound while breathing
  • Not able to exercise
  • Frequent lung infection
  • Cough that produces thick mucus
  • Stuffy nose
  • Inflamed nasal passage
  • Severe constipation
  • Poor weight gain
  • Inadequate growth
  • Intestinal blockage in newborns
  • Greasy stools
  • Breathing problem
  • Allergies that might last for some time
  • Sinus infection
  • Infertility issues in men
  • Sweat that contains too much of salt

Cystic fibrosis attacks the digestive system by clogging the tubes with the thick, sticky liquid. In such a state the digestive enzymes in the intestine are not able to absorb the nutrients from the food that is consumed.

Due to severe constipation in some patients especially children, a part of the rectum starts to extend outside the anus (rectal prolapsed). The great news is that in recent time cystic fibrosis affected children, with rectal prolapse condition is very rare and can get easily detected and diagnosed.

How Cystic fibrosis is Diagnosed and treated?

Cystic fibrosis can be treated and easily diagnosed in recent time but there is no cure for it yet. If your child or any person experiences the symptoms of cystic fibrosis talk to the doctor. The family history will be examined. Other tests like a blood test, X-rays, mucus test, sweat test, a sample of the patient’s sputum (spit), lung function test etc are recommended by the doctor to see the severity of the illness.

The treatment of cystic fibrosis involves measures to improve the lung condition, prevent blockages in the intestine, prove adequate nutrition, and keep the body hydrated. If the condition of the patient is severe then he/she is shifted to the hospital and treated.

What are the complications of cystic fibrosis?

Cystic fibrosis a chronic disease and involves several complications such as-

  • Respiratory issues

Cystic fibrosis damages the tissues of the lungs leaving it in the dysfunctional state. Thus gradually the lungs give up functioning leading to a life-threatening stage.

  • Coughing blood

This condition is termed as hemoptysis, in which a cystic fibrosis infected patient experiences thinning of the airway walls and ends up coughing up blood.

  • Bronchiectasis

Cystic fibrosis causes damaged to the airways- bronchiectasis. In such a condition the person finds it difficult to breathe air in and out of the lungs and get rid of the mucus from the bronchial tubes

  • Nasal polyps

In cystic fibrosis, the inside area of the nose gets swollen and inflamed, due to which extra soft fleshy growth  tend to develop called nasal polyps

  • Pneumothorax

Pneumothorax is common in elderly people. This condition causes chest pain and breathing issues. In pneumothorax air gets collected in a place that separates the lungs from the chest wall, thus arising difficulty in breathing or a breathless situation.

  • Diabetes

Insulin is produced by the pancreas which our body needs to use sugar. It has been found that most teenagers and adults with cystic fibrosis are diagnosed with diabetes.

  • Chronic sickness

Thick mucus produced due to cystic fibrosis in the lungs provides an ideal space for bacteria and fungi to breed. Thus increases the chances of getting a sinus infection, pneumonia or bronchitis.

  • Osteoporosis-thinning of the bones

Cystic fibrosis results in thinning of the bones due to which the patient may suffer from arthritis, joint pain, and muscle pain frequently.

  • Mental health issues

Cystic fibrosis might suffer from mental health issues like depression, fear or anxiety while dealing with such a chronic disease.

Precautions of Cystic fibrosis

As cystic fibrosis is a genetic disease, the first kind of precaution that needs to be taken is to check the family history before planning for a baby.

If there are family members or relatives with this genetic disorder in both sides then the would-be parents can take up the necessary step and take preventive measures through medical help. A test can also be carried out before family planning that will give a clear picture of whether the partners are safe or not.

If you’re pregnant and the genetic test indicates that the baby has chances of cystic fibrosis, it is important to consult with the doctor and do the required test.

For those who are already suffering from cystic fibrosis, certain things can be followed at home to improve the quality of life-

  • Drink a lot of water or any fluid like juice, smoothies to reduce the mucus present in the lungs
  • Involve in a light exercise like walking, cycling or if possible swimming
  • Quit smoking and avoid pollen infected environment, this can worsen your condition
  • Get vaccinated for pneumonia and influenza

Hopefully, medical science comes up with a solution to cure cystic fibrosis completely, till then be safe and take care of yourself.


Que1. Can you get cystic fibrosis at any age?
Ans- Cystic fibrosis is an inherited chronic disorder that is usually detected in childhood while adults who have shown no symptoms during their youth can also get cystic fibrosis.

Que2.How long can you live with cystic fibrosis?
Ans- It has been observed that a person can live up to 37.5 years approximately. The life span may increase as medical science is improving over the years

Que3. What is the first sign of cystic fibrosis?
Ans- The first signs of cystic fibrosis include salty sweat, poor growth or weight loss, constant coughing and wheezing sound.

Que4. Can two people with cystic fibrosis be together?
Ans- Sadly no; if two people with cystic fibrosis are together then there are high chances that infection will pass to each other making condition worse and decreasing their survival rate.

Que 5. Can you touch someone with cystic fibrosis?
Ans- Yes, a healthy person can tough a cystic fibrosis patient as the disease is non-contagious for the healthy group but for another patient suffering from cystic fibrosis it is dangerous.

Que 6. How do cystic fibrosis patients die?
Ans- Majority of the cystic fibrosis patients face death from massive lung infections

Que 7. Is Cystic fibrosis painful?
Ans- Yes cystic fibrosis may experience pain in the form of headaches, chest pain, back pain, abdominal pain or limb pain

Que 8. How old is the oldest person with cystic fibrosis?
Ans- The oldest person to survive cystic fibrosis is 76 years who belonged from Ireland

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